先天性オロト酸尿症
WordNet
- present at birth but not necessarily hereditary; acquired during fetal development (同)inborn, innate
PrepTutorEJDIC
- (病気・身体的欠陥など)生まれつきの,先天的な
UpToDate Contents
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- 1. 先天性代謝異常：疫学、病因、および臨床的特徴inborn errors of metabolism epidemiology pathogenesis and clinical features [show details]
… congenital heart disease, hypospadias, polydactyly, and syndactyly) Congenital disorders of protein glycosylation… as described below : Macrocytic anemia – Homocystinuria, methylmalonic acidemia, hereditary orotic aciduria, lysinuric protein intolerance (a disorder of amino acid transport), Lesch-Nyhan syndrome …
- 2. 小児における腎結石症の疫学および危険因子epidemiology of and risk factors for nephrolithiasis in children [show details]
… and congenital malabsorption disorders (ie, congenital lactase deficiency, congenital sucrase-isomaltase deficiency,… Orotic aciduria is a rare inborn error of pyrimidine metabolism that is recessively inherited.…
- 3. 痛風患者への尿酸生成抑制薬の投与と痛風結節の治療pharmacologic urate lowering therapy and treatment of tophi in patients with gout [show details]
…fall in serum urate levels. Through nucleotide derivatives of oxypurinol, it induces a state of oroticaciduria and orotidinuria, due to inhibition of the enzyme orotidylate decarboxylase in the pathway of…
English Journal
- Milder clinical course of Type IV 3-methylglutaconic aciduria due to a novel mutation in TMEM70.
- Shchelochkov OA1, Li FY, Wang J, Zhan H, Towbin JA, Jefferies JL, Wong LJ, Scaglia F.
- Molecular genetics and metabolism.Mol Genet Metab.2010 Oct-Nov;101(2-3):282-5. doi: 10.1016/j.ymgme.2010.07.012. Epub 2010 Jul 24.
- PMID 20728387
- [Bone marrow examination of inherited diseases in children].
- Fenneteau O1, Lainey E.
- Annales de biologie clinique.Ann Biol Clin (Paris).2007 Sep-Oct;65(5):483-503.
- PMID 17913668
- First reported case of lysinuric protein intolerance (LPI) in Lithuania, confirmed biochemically and by DNA analysis.
- Cimbalistiene L1, Lehnert W, Huoponen K, Kucinskas V.
- Journal of applied genetics.J Appl Genet.2007;48(3):277-80.
- PMID 17666782
Related Links
- Sometimes, the urine of people with hereditary orotic aciduria is cloudy because of the presence of orotic acid crystals (crystalluria). These crystals may also play a role in episodes of obstructive uropathy that have can also occur.
- Leukocytes from presumed heterozygotes of congenital orotic aciduria have been found to exhibit a partial defect in the metabolism of orotic acid. In disrupted cell preparations, orotidylic decarboxylase activity was reduced. Assay of orotidylic pyrophosphorylase activity proved to be unsatisfactory in leukocyte preparations. 2.
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★リンクテーブル★
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- 英
- congenital orotic aciduria
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- 関
- congenital、congenitally
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